ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2866-2del (rs1593681941)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001375 SCV001158573 pathogenic Wilson disease 2019-07-01 criteria provided, single submitter clinical testing The ATP7B c.2866-2delA variant (rs1377418826), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant abolishes the canonical splice acceptor site of intron 12, which is likely to disrupt gene function. Another variant at the same nucleotide (c.2866-2A>G) has been reported in individuals with Wilson disease and is considered disease-causing, suggesting this position is intolerant of variation (Aggarwal 2013, Huong 2018). Based on available information, the c.2866-2delA variant is considered to be pathogenic. References: Aggarwal A et al. Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations. Ann Hum Genet. 2013 Jul;77(4):299-307. Huong NTM et al. Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease. BMC Med Genet. 2018 Jun 18;19(1):104.

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